Incidental Mutation 'R2244:Abraxas2'
| ID |
240605 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Abraxas2
|
| Ensembl Gene |
ENSMUSG00000030965 |
| Gene Name |
BRISC complex subunit |
| Synonyms |
KIAA0157, Fam175b, C430003P19Rik |
| MMRRC Submission |
040244-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R2244 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
132460954-132486840 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 132484940 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 328
(T328A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081541
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084497]
[ENSMUST00000106161]
[ENSMUST00000124096]
[ENSMUST00000134784]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084497
AA Change: T328A
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000081541
Gene: ENSMUSG00000030965
AA Change: T328A
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
224 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
372 |
385 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106161
|
| SMART Domains |
Protein: ENSMUSP00000101767
Gene: ENSMUSG00000030965
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
221 |
271 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124096
|
| SMART Domains |
Protein: ENSMUSP00000130971
Gene: ENSMUSG00000030849
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Pkinase
|
1 |
118 |
4.8e-19 |
PFAM |
|
Pfam:Pkinase_Tyr
|
1 |
118 |
1.7e-50 |
PFAM |
|
low complexity region
|
146 |
160 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000129552
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000134784
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138436
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000147786
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211184
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000209767
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aen |
T |
C |
7: 78,557,045 (GRCm39) |
Y156H |
probably damaging |
Het |
| Aip |
T |
C |
19: 4,164,796 (GRCm39) |
D263G |
probably benign |
Het |
| Car1 |
T |
A |
3: 14,835,912 (GRCm39) |
I70F |
possibly damaging |
Het |
| Cc2d2a |
T |
A |
5: 43,889,775 (GRCm39) |
F1357Y |
probably damaging |
Het |
| Cit |
A |
G |
5: 116,064,564 (GRCm39) |
E482G |
probably damaging |
Het |
| Dennd4c |
C |
T |
4: 86,692,780 (GRCm39) |
P97S |
probably damaging |
Het |
| Fbxw24 |
T |
C |
9: 109,434,117 (GRCm39) |
T398A |
possibly damaging |
Het |
| Fpr3 |
T |
C |
17: 18,191,449 (GRCm39) |
F240S |
probably benign |
Het |
| Herc6 |
A |
T |
6: 57,575,602 (GRCm39) |
R208* |
probably null |
Het |
| Itsn1 |
A |
G |
16: 91,650,659 (GRCm39) |
N928S |
probably null |
Het |
| Ly75 |
T |
C |
2: 60,180,257 (GRCm39) |
D640G |
probably benign |
Het |
| Mfsd4a |
T |
A |
1: 131,956,243 (GRCm39) |
E507V |
probably benign |
Het |
| Nyap1 |
T |
C |
5: 137,733,576 (GRCm39) |
T486A |
probably damaging |
Het |
| Or11g2 |
G |
A |
14: 50,856,114 (GRCm39) |
C145Y |
probably damaging |
Het |
| Pgam2 |
T |
C |
11: 5,751,723 (GRCm39) |
T238A |
probably benign |
Het |
| Pgm2 |
A |
G |
5: 64,264,045 (GRCm39) |
D343G |
probably benign |
Het |
| Rbpjl |
G |
T |
2: 164,245,137 (GRCm39) |
|
probably benign |
Het |
| Rhobtb2 |
CGAGGAGGAGGAGGAGG |
CGAGGAGGAGGAGG |
14: 70,024,976 (GRCm39) |
|
probably benign |
Het |
| Selp |
G |
T |
1: 163,964,855 (GRCm39) |
E506* |
probably null |
Het |
| Sgo2a |
T |
C |
1: 58,056,213 (GRCm39) |
I799T |
probably benign |
Het |
| Slc45a2 |
A |
G |
15: 11,003,087 (GRCm39) |
T187A |
probably benign |
Het |
| Tenm2 |
A |
T |
11: 36,755,689 (GRCm39) |
L103H |
probably damaging |
Het |
| Thbs2 |
A |
G |
17: 14,891,675 (GRCm39) |
I954T |
probably damaging |
Het |
| Usp20 |
T |
C |
2: 30,900,343 (GRCm39) |
S286P |
possibly damaging |
Het |
|
| Other mutations in Abraxas2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Abraxas2
|
APN |
7 |
132,485,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0123:Abraxas2
|
UTSW |
7 |
132,476,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0225:Abraxas2
|
UTSW |
7 |
132,476,584 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0670:Abraxas2
|
UTSW |
7 |
132,470,760 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R2145:Abraxas2
|
UTSW |
7 |
132,484,790 (GRCm39) |
missense |
probably benign |
0.27 |
|
R3839:Abraxas2
|
UTSW |
7 |
132,484,867 (GRCm39) |
missense |
probably benign |
0.03 |
|
R5133:Abraxas2
|
UTSW |
7 |
132,484,875 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5260:Abraxas2
|
UTSW |
7 |
132,461,003 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6217:Abraxas2
|
UTSW |
7 |
132,476,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6305:Abraxas2
|
UTSW |
7 |
132,476,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6312:Abraxas2
|
UTSW |
7 |
132,476,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6313:Abraxas2
|
UTSW |
7 |
132,476,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6793:Abraxas2
|
UTSW |
7 |
132,476,563 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7350:Abraxas2
|
UTSW |
7 |
132,476,578 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R8312:Abraxas2
|
UTSW |
7 |
132,478,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8470:Abraxas2
|
UTSW |
7 |
132,476,685 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8830:Abraxas2
|
UTSW |
7 |
132,485,085 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9480:Abraxas2
|
UTSW |
7 |
132,473,323 (GRCm39) |
missense |
probably benign |
0.19 |
|
R9687:Abraxas2
|
UTSW |
7 |
132,482,577 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATTGCAGCAGGCCCTGTTAAG -3'
(R):5'- AGGGCCGTGAATTCTTTGAATG -3'
Sequencing Primer
(F):5'- GCAGACAGATGCCATCCG -3'
(R):5'- GGGACTCTGCAGGATCAATC -3'
|
| Posted On |
2014-10-15 |
Incidental Mutation